508308.fig.002a
(a)
508308.fig.002b
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508308.fig.002c
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Figure 2: Arg1907His mutation in UBR5 in the family members affected with FAME. (a) A schematic representation of UBR5 structure, indicating the mutation site (arrowhead). HECT: homology to E6AP carboxy terminus, NLS: nuclear localization signal, PABP: poly(A)-binding proteins. (b) Electropherogram of the DNA sequence of the proband (left panel) showing a heterozygous G-to-A transition in exon 19 of the UBR5 gene (arrow), resulting in an Arg to His substitution at position 1907 in the protein. The right panel shows the wild type. (c) Genotypes of the mutation site in each family member. All the affected members have the Arg1907His mutation in UBR5, but the non-affected members do not. The symbols of the family members: see Figure 1.